{
  "url": "https://dantelabs.com/traits/aminoaciduria",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "aminoaciduria",
    "id": "HP:0003355",
    "name": "Abnormal urinary amino-acid findings",
    "label": "Aminoaciduria",
    "definition": "An increased concentration of an amino acid in the urine.",
    "synonyms": [
      "High urine amino acid levels",
      "Increased levels of animo acids in urine",
      "Hyperaminoaciduria"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-urine-amino-acid-level",
        "name": "Abnormal urine amino acid level",
        "url": "https://dantelabs.com/traits/abnormal-urine-amino-acid-level"
      }
    ],
    "narrower": [
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "genes": 15,
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "transient-aminoaciduria",
        "name": "Transient aminoaciduria",
        "genes": 1,
        "url": "https://dantelabs.com/traits/transient-aminoaciduria"
      },
      {
        "slug": "increased-proteinogenic-amino-acid-level-in-urine",
        "name": "Increased proteinogenic amino acid level in urine",
        "genes": 0,
        "url": "https://dantelabs.com/traits/increased-proteinogenic-amino-acid-level-in-urine"
      },
      {
        "slug": "increased-urinary-non-proteinogenic-amino-acid-level",
        "name": "Increased urinary non-proteinogenic amino acid level",
        "genes": 0,
        "url": "https://dantelabs.com/traits/increased-urinary-non-proteinogenic-amino-acid-level"
      },
      {
        "slug": "increased-urine-proteinogenic-amino-acid-derivative-level",
        "name": "Increased urine proteinogenic amino acid derivative level",
        "genes": 0,
        "url": "https://dantelabs.com/traits/increased-urine-proteinogenic-amino-acid-derivative-level"
      }
    ],
    "genes": [
      {
        "slug": "atpaf2",
        "symbol": "ATPAF2",
        "hgnc": "HGNC:18802",
        "name": "ATP synthase mitochondrial F1 complex assembly factor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atpaf2"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "hgnc": "HGNC:1020",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bcs1l"
      },
      {
        "slug": "ctns",
        "symbol": "CTNS",
        "hgnc": "HGNC:2518",
        "name": "cystinosin, lysosomal cystine transporter",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ctns"
      },
      {
        "slug": "fdxr",
        "symbol": "FDXR",
        "hgnc": "HGNC:3642",
        "name": "ferredoxin reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fdxr"
      },
      {
        "slug": "gatm",
        "symbol": "GATM",
        "hgnc": "HGNC:4175",
        "name": "glycine amidinotransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gatm"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "hgnc": "HGNC:6898",
        "name": "methionyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mars1"
      },
      {
        "slug": "nfs1",
        "symbol": "NFS1",
        "hgnc": "HGNC:15910",
        "name": "NFS1 cysteine desulfurase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfs1"
      },
      {
        "slug": "pet100",
        "symbol": "PET100",
        "hgnc": "HGNC:40038",
        "name": "PET100 cytochrome c oxidase chaperone",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pet100"
      },
      {
        "slug": "rfc4",
        "symbol": "RFC4",
        "hgnc": "HGNC:9972",
        "name": "replication factor C subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc4"
      },
      {
        "slug": "spink5",
        "symbol": "SPINK5",
        "hgnc": "HGNC:15464",
        "name": "serine peptidase inhibitor Kazal type 5",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spink5"
      },
      {
        "slug": "vipas39",
        "symbol": "VIPAS39",
        "hgnc": "HGNC:20347",
        "name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vipas39"
      },
      {
        "slug": "vps33b",
        "symbol": "VPS33B",
        "hgnc": "HGNC:12712",
        "name": "VPS33B late endosome and lysosome associated",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps33b"
      },
      {
        "slug": "asl",
        "symbol": "ASL",
        "hgnc": "HGNC:746",
        "name": "argininosuccinate lyase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/asl"
      },
      {
        "slug": "casr",
        "symbol": "CASR",
        "hgnc": "HGNC:1514",
        "name": "calcium sensing receptor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/casr"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "hgnc": "HGNC:2323",
        "name": "carbamoyl-phosphate synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cps1"
      },
      {
        "slug": "gclc",
        "symbol": "GCLC",
        "hgnc": "HGNC:4311",
        "name": "glutamate-cysteine ligase catalytic subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gclc"
      },
      {
        "slug": "hgd",
        "symbol": "HGD",
        "hgnc": "HGNC:4892",
        "name": "homogentisate 1,2-dioxygenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgd"
      },
      {
        "slug": "neu1",
        "symbol": "NEU1",
        "hgnc": "HGNC:7758",
        "name": "neuraminidase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neu1"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "hgnc": "HGNC:8512",
        "name": "ornithine transcarbamylase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otc"
      },
      {
        "slug": "sucla2",
        "symbol": "SUCLA2",
        "hgnc": "HGNC:11448",
        "name": "succinate-CoA ligase ADP-forming subunit beta",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sucla2"
      },
      {
        "slug": "trpv6",
        "symbol": "TRPV6",
        "hgnc": "HGNC:14006",
        "name": "transient receptor potential cation channel subfamily V member 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv6"
      },
      {
        "slug": "umps",
        "symbol": "UMPS",
        "hgnc": "HGNC:12563",
        "name": "uridine monophosphate synthetase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/umps"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "hgnc": "HGNC:20492",
        "name": "cytochrome c oxidase assembly factor 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coa8"
      },
      {
        "slug": "gemin4",
        "symbol": "GEMIN4",
        "hgnc": "HGNC:15717",
        "name": "gem nuclear organelle associated protein 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gemin4"
      },
      {
        "slug": "oat",
        "symbol": "OAT",
        "hgnc": "HGNC:8091",
        "name": "ornithine aminotransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oat"
      },
      {
        "slug": "trnt1",
        "symbol": "TRNT1",
        "hgnc": "HGNC:17341",
        "name": "tRNA nucleotidyl transferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trnt1"
      },
      {
        "slug": "atp7b",
        "symbol": "ATP7B",
        "hgnc": "HGNC:870",
        "name": "ATPase copper transporting beta",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp7b"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "hgnc": "HGNC:21062",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fars2"
      },
      {
        "slug": "focad",
        "symbol": "FOCAD",
        "hgnc": "HGNC:23377",
        "name": "focadhesin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/focad"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "clcn5",
        "symbol": "CLCN5",
        "hgnc": "HGNC:2023",
        "name": "Cl-/H+ antiporter 5",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clcn5"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "hgnc": "HGNC:2260",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "hgnc": "HGNC:2263",
        "name": "cytochrome c oxidase assembly factor COX15",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox15"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "hgnc": "HGNC:2280",
        "name": "cytochrome c oxidase subunit 6B1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox6b1"
      },
      {
        "slug": "ehhadh",
        "symbol": "EHHADH",
        "hgnc": "HGNC:3247",
        "name": "enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ehhadh"
      },
      {
        "slug": "fastkd2",
        "symbol": "FASTKD2",
        "hgnc": "HGNC:29160",
        "name": "FASTK mitochondrial RNA regulator 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fastkd2"
      },
      {
        "slug": "fh",
        "symbol": "FH",
        "hgnc": "HGNC:3700",
        "name": "fumarate hydratase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fh"
      },
      {
        "slug": "ftcd",
        "symbol": "FTCD",
        "hgnc": "HGNC:3974",
        "name": "formimidoyltransferase cyclodeaminase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ftcd"
      },
      {
        "slug": "gale",
        "symbol": "GALE",
        "hgnc": "HGNC:4116",
        "name": "UDP-galactose-4-epimerase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gale"
      },
      {
        "slug": "galt",
        "symbol": "GALT",
        "hgnc": "HGNC:4135",
        "name": "galactose-1-phosphate uridylyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/galt"
      },
      {
        "slug": "glyctk",
        "symbol": "GLYCTK",
        "hgnc": "HGNC:24247",
        "name": "glycerate kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glyctk"
      },
      {
        "slug": "hibch",
        "symbol": "HIBCH",
        "hgnc": "HGNC:4908",
        "name": "3-hydroxyisobutyryl-CoA hydrolase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hibch"
      },
      {
        "slug": "hnf4a",
        "symbol": "HNF4A",
        "hgnc": "HGNC:5024",
        "name": "hepatocyte nuclear factor 4 alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnf4a"
      },
      {
        "slug": "mt-tn",
        "symbol": "MT-TN",
        "hgnc": "HGNC:7493",
        "name": "mitochondrially encoded tRNA-Asn (AAU/C)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tn"
      },
      {
        "slug": "mt-ts1",
        "symbol": "MT-TS1",
        "hgnc": "HGNC:7497",
        "name": "mitochondrially encoded tRNA-Ser (UCN) 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts1"
      },
      {
        "slug": "naga",
        "symbol": "NAGA",
        "hgnc": "HGNC:7631",
        "name": "alpha-N-acetylgalactosaminidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naga"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "hgnc": "HGNC:28625",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf6"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      },
      {
        "slug": "rrm2b",
        "symbol": "RRM2B",
        "hgnc": "HGNC:17296",
        "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rrm2b"
      },
      {
        "slug": "sco1",
        "symbol": "SCO1",
        "hgnc": "HGNC:10603",
        "name": "synthesis of cytochrome C oxidase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco1"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "slc19a2",
        "symbol": "SLC19A2",
        "hgnc": "HGNC:10938",
        "name": "solute carrier family 19 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc19a2"
      },
      {
        "slug": "slc1a1",
        "symbol": "SLC1A1",
        "hgnc": "HGNC:10939",
        "name": "solute carrier family 1 member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a1"
      },
      {
        "slug": "slc35a1",
        "symbol": "SLC35A1",
        "hgnc": "HGNC:11021",
        "name": "solute carrier family 35 member A1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a1"
      },
      {
        "slug": "slc7a7",
        "symbol": "SLC7A7",
        "hgnc": "HGNC:11065",
        "name": "solute carrier family 7 member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc7a7"
      },
      {
        "slug": "surf1",
        "symbol": "SURF1",
        "hgnc": "HGNC:11474",
        "name": "SURF1 cytochrome c oxidase assembly factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/surf1"
      },
      {
        "slug": "taco1",
        "symbol": "TACO1",
        "hgnc": "HGNC:24316",
        "name": "translational activator of cytochrome c oxidase I",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taco1"
      },
      {
        "slug": "tk2",
        "symbol": "TK2",
        "hgnc": "HGNC:11831",
        "name": "thymidine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tk2"
      }
    ]
  }
}